Review articles

	Intracellular inclusions, pathological markers in diseases caused by expanded polyglutamine tracts? D C Rubinsztein, A Wyttenbach, and J Rankin J Med Genet 1999; 36: 265-270. doi:10.1136/jmg.36.4.265 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes J Wirth, H-G Nothwang, S van der Maarel, C Menzel, G Borck, I Lopez-Pajares, K Brøndum-Nielsen, N Tommerup, M Bugge, H-H Ropers, and T Haaf J Med Genet 1999; 36: 271-278. doi:10.1136/jmg.36.4.271 [Abstract] [Full text] [PDF] [Request Permissions]
	A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome D O Robinson, P Dalton, P A Jacobs, K Mosse, M M Power, D H Skuse, and J A Crolla J Med Genet 1999; 36: 279-284. doi:10.1136/jmg.36.4.279 [Abstract] [Full text] [PDF] [Request Permissions]
	Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation Marjon van Slegtenhorst, Senno Verhoef, Anita Tempelaars, Lida Bakker, Qi Wang, Marja Wessels, Remco Bakker, Mark Nellist, Dick Lindhout, Dicky Halley, and Ans van den Ouweland J Med Genet 1999; 36: 285-289. doi:10.1136/jmg.36.4.285 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma Martina Plásilová, Ivaylo Stoilov, Mansoor Sarfarazi, Ludovít Kádasi, Eva Feráková, and Vladimír Ferák J Med Genet 1999; 36: 290-294. doi:10.1136/jmg.36.4.290 [Abstract] [Full text] [PDF] [Request Permissions]
	Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility Susan Searle and Jenefer M Blackwell J Med Genet 1999; 36: 295-299. doi:10.1136/jmg.36.4.295 [Abstract] [Full text] [PDF] [Request Permissions]
	Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples Barbara Pertl, Susanne Kopp, Peter M Kroisel, Lucia Tului, Bruno Brambati, and Matteo Adinolfi J Med Genet 1999; 36: 300-303. doi:10.1136/jmg.36.4.300 [Abstract] [Full text] [PDF] [Request Permissions]
	High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects G Goelen, E Teugels, M Bonduelle, B Neyns, and J De Grève J Med Genet 1999; 36: 304-308. doi:10.1136/jmg.36.4.304 [Abstract] [Full text] [PDF] [Request Permissions]
	The accuracy of diagnoses as reported in families with cancer: a retrospective study Fiona S Douglas, Lindsay C O'Dair, Marion Robinson, D Gareth R Evans, and Sally A Lynch J Med Genet 1999; 36: 309-312. doi:10.1136/jmg.36.4.309 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family Tracey A Smith, Shu C Yau, Martin Bobrow, and Stephen J Abbs J Med Genet 1999; 36: 313-315. doi:10.1136/jmg.36.4.313 [Abstract] [Full text] [PDF] [Request Permissions]
	ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy Kathleen M Fitzgerald, Gerhard W Cibis, Ann Headrick Gettel, Robert Rinaldi, David J Harris, and Robert A White J Med Genet 1999; 36: 316-322. doi:10.1136/jmg.36.4.316 [Abstract] [Full text] [PDF] [Request Permissions]
	Association of a lymphotoxin  gene polymorphism and atopy in Italian families Elisabetta Trabetti, Cristina Patuzzo, Giovanni Malerba, Roberta Galavotti, Laura Carmen Martinati, Attilio L Boner, and Pier Franco Pignatti J Med Genet 1999; 36: 323-325. doi:10.1136/jmg.36.4.323 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region Osamu Miyoshi, Tatsuro Kondoh, Hiroshi Taneda, Kojiro Otsuka, Tadashi Matsumoto, and Norio Niikawa J Med Genet 1999; 36: 326-329. doi:10.1136/jmg.36.4.326 [Abstract] [Full text] [PDF] [Request Permissions]
	Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia Sylvie Odent, Philippe Loget, Bernard Le Marec, Anne-Lise Delezoïde, and Pierre Maroteaux J Med Genet 1999; 36: 330-332. doi:10.1136/jmg.36.4.330 [Abstract] [Full text] [PDF] [Request Permissions]
	Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements Anna Soler, Ester Margarit, Ana Carrió, Dolors Costa, Rosa Queralt, and Francisca Ballesta J Med Genet 1999; 36: 333-334. doi:10.1136/jmg.36.4.333 [Abstract] [Full text] [PDF] [Request Permissions]
	Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection Martin B Delatycki, Lucille Voullaire, David Francis, Vida Petrovic, Anne Robertson, Lorna M Webber, and Howard R Slater J Med Genet 1999; 36: 335-338. doi:10.1136/jmg.36.4.335 [Abstract] [Full text] [PDF] [Request Permissions]
	Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families M Guttenbach, T Haaf, C Steinlein, J Caesar, A Schinzel, and M Schmid J Med Genet 1999; 36: 339-342. doi:10.1136/jmg.36.4.339 [Abstract] [Full text] [PDF] [Request Permissions]
	Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p Jan Wahlström, Anna Uller, Tonnie Johannesson, Deborah Holmqvist, Catarina Darnfors, Mihailo Vujic, Bernt Tonnby, Bengt Hagberg, and Tommy Martinsson J Med Genet 1999; 36: 343-345. doi:10.1136/jmg.36.4.343 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6) K KOK, A MOSSELAAR, H FABER, T DIJKHUIZEN, T G DRAAIJERS, A Y VAN DER VEEN, C H C M BUYS, and C T R M SCHRANDER-STUMPEL J Med Genet 1999; 36: 346-347. doi:10.1136/jmg.36.4.346 [Extract] [Full text] [PDF] [Request Permissions]
	Familial testicular cancer: lack of evidence for trinucleotide repeat expansions and association with PKD1 in one family B T TEH, K LINBLAD, B NORD, S KYTÖLÄ, M SCHALLING, C LARSSON, E RAPLEY, P BIGGS, R HUDDART, M STRATTON, S HII, and D NICOL J Med Genet 1999; 36: 348-349. doi:10.1136/jmg.36.4.348 [Extract] [Full text] [Request Permissions]
	Tricuspid atresia and conotruncal malformations in five families DAMIEN BONNET, LAURENT FERMONT, JEAN KACHANER, DANIEL SIDI, JEANNE AMIEL, STANISLAS LYONNET, and ARNOLD MUNNICH J Med Genet 1999; 36: 349-350. doi:10.1136/jmg.36.4.349 [Extract] [Full text] [Request Permissions]
	Clinical governance and genetic medicine. Specialist genetic centres and the Confidential Enquiry into Counselling for Genetic Disorders by non-geneticists (CEGEN) RODNEY HARRIS and HILARY J HARRIS J Med Genet 1999; 36: 350-351. doi:10.1136/jmg.36.4.350 [Extract] [Full text] [Request Permissions]